Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000426387 | SCV000518453 | uncertain significance | not provided | 2017-05-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the FLNA gene. The A797T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A797T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and where threonine is present as the wild type in multiple mammalian species. In silico analysis suggests that this variant likely does not alter the protein structure/function. |
| Invitae | RCV000547200 | SCV000639770 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-13 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002450976 | SCV002737316 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-03-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |